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| ENNS,CAROLINE A. |
| Hereditary hemochromatosis (HH) is the most common inherited disorder in people of Northern European descent. Over 83% of the cases of HH result from a single mutation of a Cys to Tyr in the HH protein, HFE. This mutation causes a recessive disease resulting in an accumulation of iron in selected tissues. Iron overload damages these organs leading to cirrhosis of the liver, diabetes, cardiomyopathy, and arthritis. The mechanism by which HFE influences iron homeostasis in cells and in the body remains elusive. Lack of functional HFE in humans produces the opposite effects in different cell types in the body. In the early stages of the disease, Kupffer cells in the liver and enterocytes in the intestine cells are iron depleted and have low intracellular... |
| Tipo: Journal article |
Palavras-chave: Hereditary hemochromatosis; HFE; Iron overload; Iron homeostasis. |
| Ano: 2006 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602006000100013 |
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| Souza,R.M.; Freitas,L.A.R.; Lyra,A.C.; Moraes,C.F.; Braga,E.L.; Lyra,L.G.C.. |
| The objective of the present study was to determine the presence of hepatic iron overload in patients with chronic HCV infection and to correlate it with histologic alterations, HCV genotype and response to therapy. Liver tissue samples from 95 patients with chronic hepatitis C were divided into two groups: group I, presence of iron overload in hepatic tissue (Perls' staining) and group II, no iron overload. Hepatic iron overload was detected in 30 (31.6%) of 95 patients. Of the 69 patients tested by genotyping, 49 (71.01%) were genotype 1 and 20 (28.99%) genotype non-1. Iron overload was detected in 14 (28.6%) patients with genotype 1 and in 6 (30%) with genotype non-1 (P = 0.906). There was a significant difference in fibrosis stage between groups (P =... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Hepatitis C infection; Iron overload; Genotype; Inflammatory activity; Fibrosis; Antiviral therapy. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000100009 |
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| Deguti,M.M.; Sipahi,A.M.; Gayotto,L.C.C.; Palácios,S.A.; Bittencourt,P.L.; Goldberg,A.C.; Laudanna,A.A.; Carrilho,F.J.; Cançado,E.L.R.. |
| The hypothesis of the role of iron overload associated with HFE gene mutations in the pathogenesis of nonalcoholic steatohepatitis (NASH) has been raised in recent years. In the present study, biochemical and histopathological evidence of iron overload and HFE mutations was investigated in NASH patients. Thirty-two NASH patients, 19 females (59%), average 49.2 years, 72% Caucasians, 12% Mulattoes and 12% Asians, were submitted to serum aminotransferase and iron profile determinations. Liver biopsies were analyzed for necroinflammatory activity, architectural damage and iron deposition. In 31 of the patients, C282Y and H63D mutations were tested by PCR-RFLP. Alanine aminotransferase levels were increased in 30 patients, 2.42 ± 1.12 times the upper normal... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fatty liver; Nonalcoholic steatohepatitis; Iron overload; HFE gene; Alanine aminotransferase. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600009 |
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| Bittencourt,P.L.; Palácios,S.A.; Couto,C.A.; Cançado,E.L.R.; Carrilho,F.J.; Laudanna,A.A.; Kalil,J.; Gayotto,L.C.C.; Goldberg,A.C.. |
| The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH) are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Hemochromatosis; HFE mutations; Iron overload; HLA-A3 mutation; C282Y mutation; H63D mutation; Chromosome 6. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000300007 |
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| Cardoso,L.M.; Pedrosa,M.L.; Silva,M.E.; Moraes,M.F.D.; Colombari,E.; Chianca-Jr.,D.A.. |
| Our hypothesis is that iron accumulated in tissue, rather than in serum, may compromise cardiovascular control. Male Fischer 344 rats weighing 180 to 220 g were divided into 2 groups. In the serum iron overload group (SIO, N = 12), 20 mg elemental iron was injected ip daily for 7 days. In the tissue iron overload group (TIO, N = 19), a smaller amount of elemental iron was injected (10 mg, daily) for 5 days followed by a resting period of 7 days. Reflex heart rate responses were elicited by iv injections of either phenylephrine (0.5 to 5.0 µg/kg) or sodium nitroprusside (1.0 to 10.0 µg/kg). Baroreflex curves were determined and fitted to sigmoidal equations and the baroreflex gain coefficient was evaluated. To evaluate the role of other than a direct effect... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Baroreflex; Iron overload; Heart rate; Blood pressure; Iron dextran; Deferoxamine. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000200008 |
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| Boturão-Neto,E.; Marcopito,L.F.; Zago,M.A.. |
| The purpose of the present study was to identify noninvasive methods to evaluate the severity of iron overload in transfusion-dependent ß-thalassemia and the efficiency of intensive intravenous therapy as an additional tool for the treatment of iron-overloaded patients. Iron overload was evaluated for 26 ß-thalassemia homozygous patients, and 14 of them were submitted to intensive chelation therapy with high doses of intravenous deferoxamine (DF). Patients were classified into six groups of increasing clinical severity and were divided into compliant and non-compliant patients depending on their adherence to chronic chelation treatment. Several methods were used as indicators of iron overload. Total gain of transfusion iron, plasma ferritin, and urinary... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: SS-Thalassemia; Iron overload; Deferoxamine; Iron excretion. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002001100009 |
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